面肩肱型肌营养不良患者伴发视网膜病变的相关研究进展

Advance of Retinopathy in the Research of Fascioscapulohumeral Muscular Dystrophy

面肩肱型肌营养不良(FSHD)是一种临床表现多样的遗传性肌病。除累及肌肉外,还累及全身多个系统,其中视网膜病变常被忽视。约1%的FSHD患者因未能及时发现视网膜血管病变而导致最终失明。FSHD伴发视网膜病变,如类似Coats病血管改变的机制尚不明确,普遍认为此两者存在必然联系。多数学者建议对FSHD患者进行早期眼底检查,必要时作眼底荧光血管造影术,以便早期诊断、早期治疗视网膜病变,减少失明率。着眼于发病机制,尤其是致病基因定位的研究,以及在明确基因突变位点后寻找相应的调控物质或抑制转录分子将是今后的研究热点。

Fascioscapulohumeral muscular dystrophy（FSHD） is a genetic myopathy, which presents a wild and heterogenenous spectrum of clinical features. A number of extramuscular manifestations in FSHD are described, the most common but apt to be ignored is retinopathy. About 1% of the patients will be finally blind for not being treated earlier. The pathogenesis of retinopathy in FSHD is still unknown yet. It is generally accepted that there is a linkage between retinopathy and FSHD. Ophthalmoscopy and even fluorescein angiography are advised to perform in FSHD patients, in order to identify the retinal vascular disease at early stage for treatments. The focus on the pathogenesis, especially on the localization of the gene will be the hotspot of the research in the future.